MCM8
Minichromosome Maintenance 8 Homologous Recombination Repair Factor
Gene Information Card
| Symbol | MCM8 |
|---|---|
| Full Name | Minichromosome Maintenance 8 Homologous Recombination Repair Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 84519 ncbi.nlm.nih.gov/gene/84519 |
| Ensembl ID | ENSG00000125885 |
| UniProt ID | Q9UJA3 |
| OMIM ID | 608187 |
| HGNC ID | 16152 |
| Aliases | C20orf154, MGC3335, MGC35010 |
Description
MCM8 encodes a protein that is a member of the minichromosome maintenance (MCM) family, which is involved in DNA replication and homologous recombination repair. MCM8 forms a complex with MCM9 and is essential for homologous recombination-mediated DNA double-strand break repair and meiotic recombination. Mutations in MCM8 are associated with primary ovarian insufficiency and susceptibility to certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ovarian insufficiency | MCM8 mutations impair homologous recombination repair, leading to meiotic defects and ovarian failure. | OMIM #608187; PMID: 25620204 |
| Premature ovarian failure 10 | Biallelic mutations in MCM8 cause a form of premature ovarian failure. | OMIM #618096; PMID: 25620204 |
| Susceptibility to breast cancer | MCM8 variants may increase risk of breast cancer through defective DNA repair. | PMID: 26689913 |
| Colorectal cancer | MCM8 expression alterations are observed in colorectal tumors. | COSMIC; PMID: 23569304 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 8.2 | Medium |
| Bone marrow | 6.1 | Low |
| Lymph node | 5.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cell line |
| MCF7 | 6.3 | Breast cancer cell line |
| HCT116 | 5.9 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1735C>T (p.Arg579*) | Nonsense | Rare | Loss of function; associated with primary ovarian insufficiency |
| c.1114C>T (p.Arg372Trp) | Missense | Rare | Impaired homologous recombination repair |
| c.1486G>A (p.Gly496Arg) | Missense | Rare | Reduced MCM8-MCM9 complex stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, leading to loss of DNA repair activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations that disrupt complex formation may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity (GO:0003678) | • ATP binding (GO:0005524) |
| • DNA repair (GO:0006281) | • DNA recombination (GO:0006310) |
| • nucleus (GO:0005634) | • MCM complex (GO:0042555) |
Pathways
• Homologous recombination repair (Reactome: R-HSA-5693568)
• DNA replication (Reactome: R-HSA-69306)
• Fanconi anemia pathway (KEGG: hsa03460)
Protein Summary
MCM8 is a 840-amino acid protein that belongs to the MCM family of helicases. It contains an N-terminal MCM domain and a C-terminal winged-helix domain. MCM8 interacts with MCM9 to form a complex that is recruited to DNA damage sites to facilitate homologous recombination. The protein is predominantly nuclear and is highly expressed in testis and ovary, consistent with its role in meiosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCM8 Knockout HEK293 Cell Line | EDJ-KQ51849 | Human | 84515 | Details Get a Quote |
| MCM8 Knockout HeLa Cell Line | EDJ-KQ57606 | Human | 84515 | Details Get a Quote |
| MCM8 Knockout A-549 Cell Line | EDJ-KQ66103 | Human | 84515 | Details Get a Quote |
| MCM8 Knockout HCT 116 Cell Line | EDJ-KQ74523 | Human | 84515 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
